Abstract：
:The mitochondrial DNA (mtDNA) encompasses two classes of functionally important sequence variants: recent pathogenic mutations and ancient adaptive polymorphisms. To rapidly and cheaply evaluate both classes of single nucleotide variants (SNVs), we have developed an integrated system in which mtDNA SNVs are analyzed by multiplex primer extension using the SNaPshot system. A multiplex PCR amplification strategy was used to amplify the entire mtDNA, a computer program identifies optimal extension primers, and a complete global haplotyping system is also proposed. This system genotypes SNVs on multiplexed mtDNA PCR products or directly from enriched mtDNA samples and can quantify heteroplasmic variants down to 0.8% using a standard curve. With this system, we have developed assays for testing the common pathogenic mutations in four multiplex panels: two genotype the 13 most common pathogenic mtDNA mutations and two genotype the 10 most common Leber Hereditary Optic Neuropathy mutations along with haplogroups J and T. We use a hierarchal system of 140 SNVs to delineate the major global mtDNA haplogroups based on a global phylogenetic tree of coding region polymorphisms. This system should permit rapid and inexpensive genotyping of pathogenic and lineage-specific mtDNA SNVs by clinical and research laboratories.
journal_name
Biol Chemjournal_title
Biological chemistryauthors
Poole JC,Procaccio V,Brandon MC,Merrick G,Wallace DCdoi
10.1515/BC.2010.125subject
Has Abstractpub_date
2010-10-01 00:00:00pages
1115-30issue
10eissn
1431-6730issn
1437-4315journal_volume
391pub_type
杂志文章abstract：:Human adenocarcinomas overexpress a hypoglycosylated, tumor-associated form of the mucin-like glycoprotein MUC1 containing abnormal mono- and disaccharide antigens, such as Tn, sialyl-Tn, and TF, as well as stretches of unglycosylated protein backbone in the variable number of tandem repeats (VNTR) region. Both peptid...
journal_title：Biological chemistry
pub_type： 杂志文章
doi：10.1515/BC.2009.070
更新日期：2009-07-01 00:00:00
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journal_title：Biological chemistry
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journal_title：Biological chemistry
pub_type： 杂志文章,评审
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更新日期：2020-08-27 00:00:00
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journal_title：Biological chemistry
pub_type： 杂志文章
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更新日期：2018-07-26 00:00:00
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journal_title：Biological chemistry
pub_type： 杂志文章
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journal_title：Biological chemistry
pub_type： 杂志文章,评审
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更新日期：2015-12-01 00:00:00
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journal_title：Biological chemistry
pub_type： 杂志文章,评审
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journal_title：Biological chemistry
pub_type： 杂志文章,评审
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更新日期：2015-01-01 00:00:00
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journal_title：Biological chemistry
pub_type： 杂志文章
doi：10.1515/BC.2007.045
更新日期：2007-04-01 00:00:00
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pub_type： 杂志文章
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更新日期：2020-10-25 00:00:00
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journal_title：Biological chemistry
pub_type： 杂志文章,评审
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更新日期：2010-12-01 00:00:00
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journal_title：Biological chemistry
pub_type： 杂志文章
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更新日期：2009-11-01 00:00:00
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journal_title：Biological chemistry
pub_type： 杂志文章
doi：10.1515/hsz-2015-0100
更新日期：2015-08-01 00:00:00
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journal_title：Biological chemistry
pub_type： 杂志文章,评审
doi：10.1515/hsz-2012-0128
更新日期：2012-07-01 00:00:00
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journal_title：Biological chemistry
pub_type： 杂志文章
doi：10.1515/BC.2003.007
更新日期：2003-01-01 00:00:00
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journal_title：Biological chemistry
pub_type：
doi：10.1515/BC.2001.140
更新日期：2001-08-01 00:00:00
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journal_title：Biological chemistry
pub_type： 杂志文章,评审
doi：10.1515/hsz-2012-0185
更新日期：2012-11-01 00:00:00
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journal_title：Biological chemistry
pub_type： 杂志文章
doi：10.1515/BC.2001.169
更新日期：2001-09-01 00:00:00
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journal_title：Biological chemistry
pub_type： 杂志文章
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更新日期：2015-08-01 00:00:00
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journal_title：Biological chemistry
pub_type： 杂志文章
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journal_title：Biological chemistry
pub_type： 杂志文章
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更新日期：2004-11-01 00:00:00
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更新日期：2019-06-26 00:00:00
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journal_title：Biological chemistry
pub_type： 杂志文章
doi：10.1515/BC.1999.159
更新日期：1999-10-01 00:00:00
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journal_title：Biological chemistry
pub_type： 杂志文章
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更新日期：2000-03-01 00:00:00
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journal_title：Biological chemistry
pub_type： 杂志文章
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更新日期：2000-02-01 00:00:00
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journal_title：Biological chemistry
pub_type： 杂志文章
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更新日期：2010-10-01 00:00:00
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journal_title：Biological chemistry
pub_type： 杂志文章,评审
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更新日期：2002-10-01 00:00:00
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journal_title：Biological chemistry
pub_type： 杂志文章
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更新日期：2002-12-01 00:00:00
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journal_title：Biological chemistry
pub_type： 杂志文章
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更新日期：2014-07-01 00:00:00
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journal_title：Biological chemistry
pub_type： 杂志文章
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更新日期：1998-12-01 00:00:00
